Varaico: Literature-Extracted Genetic Variants

TERT

3,344 papers

RefSeq Summary

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, enc...

Pfam Domains

Telomerase_RBDaa 460–592UCSCTelomerase ribonucleoprotein complex - RNA binding domain

TERT_Caa 968–1097UCSCTelomerase reverse transcriptase, C-terminal extension

Gene Aliases

HGNC Name

telomerase reverse transcriptase

HGNC Alias Symbols

TRT; TP2; TCS1; hEST2; EST2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_198253.3

p.P530Q

c.1589C>A

Surrounding Variants

12 papers

NM_198253.3

p.P530L

c.1589C>T

1 paper

NM_198253.3

p.P530R

c.1589C>G

1 paper

NM_198253.3

p.P530P

c.1590G>A

1 paper

NM_198253.3

p.P530S

c.1588C>T

1 paper

NM_198253.3

p.P530T

c.1588C>A

2 papers

NM_198253.3

p.C528W

c.1584T>G

1 paper

NM_198253.3

p.A532P

c.1594G>C

4 papers

NM_198253.3

p.A532T

c.1594G>A

1 paper

NM_198253.3

p.E533D

c.1599G>C

1 paper

NM_198253.3

p.V526A

c.1577T>C

1 paper

NM_198253.3

p.H534R

c.1601A>G

1 paper

NM_198253.3

p.H534H

c.1602C>T